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Article

Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.

Journal of human genetics - 1 Jan 2012

Jung Chang-Woo, Lee Beom Hee, Kim Joo Hyun, Kim Gu-Hwan, Lee Jin, Choi Jin-Ho, Yoo Han-Wook

Abstract excerpt

Methylcrotonylglycinuria (MCG) is an inborn error of leucine catabolism and results from the deficiency of 3-methylcrotonyl-CoA carboxylase. Patients with MCG show a highly variable clinical phenotype, ranging from asymptomatic to severe. With the introduction of newborn screening using tandem mass spectrometry, most patients with MCG are identified in their asymptomatic neonatal periods. Owing to their fair...

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Source

Identifiers

PMID: 22030835
DOI: 10.1038/jhg.2011.116

Genes

MCCC1
MCCC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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